Search Ontology:
Human Disease
autosomal recessive progressive external ophthalmoplegia 1
- Term ID
- DOID:0111522
- Synonyms
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- PEOB1
- Definition
- A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. https://www.ncbi.nlm.nih.gov/pubmed/11431686
- References
- Ontology
- Human Disease ( DOID:0111522 )
- is a type of
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